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DNA sequence alignment involves assigning short DNA reads to the most probable locations on an extensive reference genome. This process is crucial for various genomic analyses, including variant calling, transcriptomics, and epigenomics.…

The search for meaningful structure in biological data has relied on cutting-edge advances in computational technology and data science methods. However, challenges arise as we push the limits of scale and complexity in biological problems.…

Adequate read filtering is critical when processing high-throughput data in marker-gene-based studies. Sequencing errors can cause the mis-clustering of otherwise similar reads, artificially increasing the number of retrieved Operational…

Quantitative Methods · Quantitative Biology 2015-06-02 Fernando Puente-Sánchez , Jacobo Aguirre , Víctor Parro

Recent emergence of next-generation DNA sequencing technology has enabled acquisition of genetic information at unprecedented scales. In order to determine the genetic blueprint of an organism, sequencing platforms typically employ…

Genomics · Quantitative Biology 2015-06-19 Xiaohu Shen , Manohar Shamaiah , Haris Vikalo

Predicting how genetic variation affects phenotypic outcomes at the organismal, cellular, and molecular levels requires deciphering the cis-regulatory code, the sequence rules by which non-coding regions regulate genes. In this perspective,…

Motivation: Recent advances in sequencing technologies promise ultra-long reads of $\sim$100 kilo bases (kb) in average, full-length mRNA or cDNA reads in high throughput and genomic contigs over 100 mega bases (Mb) in length. Existing…

Genomics · Quantitative Biology 2018-09-17 Heng Li

Summary: Longer sequencing reads, with at least 200 bases per template are now common. While traditional aligners have adopted new strategies to improve the mapping of longer reads, aligners specific to bisulfite-sequencing were optimized…

Genomics · Quantitative Biology 2014-05-14 Brent S. Pedersen , Kenneth Eyring , Subhajyoti De , Ivana V. Yang , David A. Schwartz

Deep learning has become a powerful tool in computational biology, revolutionising the analysis and interpretation of biological data over time. In our article review, we delve into various aspects of deep learning in computational biology.…

This paper presents a new approach to statistical similarity assessment based on sequence alignment. The algorithm performs mutual matching of two random sequences by successively searching for common elements and by applying sequence…

Signal Processing · Electrical Eng. & Systems 2021-06-09 Jakub Nikonowicz , Łukasz Matuszewski , Paweł Kubczak

Diverse subfields of neuroscience have enriched artificial intelligence for many decades. With recent advances in machine learning and artificial neural networks, many neuroscientists are partnering with AI researchers and machine learning…

Neurons and Cognition · Quantitative Biology 2019-12-03 Thomas Dean , Chaofei Fan , Francis E. Lewis , Megumi Sano

Big models have achieved revolutionary breakthroughs in the field of AI, but they might also pose potential concerns. Addressing such concerns, alignment technologies were introduced to make these models conform to human preferences and…

Artificial Intelligence · Computer Science 2024-03-08 Xinpeng Wang , Shitong Duan , Xiaoyuan Yi , Jing Yao , Shanlin Zhou , Zhihua Wei , Peng Zhang , Dongkuan Xu , Maosong Sun , Xing Xie

Evolutionary modeling applications are the best way to provide full information to support in-depth understanding of evaluation of organisms. These applications mainly depend on identifying the evolutionary history of existing organisms and…

Computational Engineering, Finance, and Science · Computer Science 2018-06-01 Sara Shehab , Sameh Abdulah , Arabi E. Keshk

Long reads produced by third-generation sequencing technologies are used to construct an assembly (i.e., the subject's genome), which is further used in downstream genome analysis. Unfortunately, long reads have high sequencing error rates…

Genomics · Quantitative Biology 2020-10-29 Can Firtina , Jeremie S. Kim , Mohammed Alser , Damla Senol Cali , A. Ercument Cicek , Can Alkan , Onur Mutlu

Next-generation sequencing (NGS) is a pivotal technique in genome sequencing due to its high throughput, rapid results, cost-effectiveness, and enhanced accuracy. Its significance extends across various domains, playing a crucial role in…

Genomics · Quantitative Biology 2025-04-28 Fathima Nuzla Ismail , Shanika Amarasoma

Background: With the rapid growth of massively parallel sequencing technologies, still more laboratories are utilizing sequenced DNA fragments for genomic analyses. Interpretation of sequencing data is, however, strongly dependent on…

Multiple genome alignment remains a challenging problem. Effects of recombination including rearrangement, segmental duplication, gain, and loss can create a mosaic pattern of homology even among closely related organisms. We describe a…

Genomics · Quantitative Biology 2009-11-02 Aaron E. Darling , Bob Mau , Nicole T. Perna

Exact string matching has been a fundamental problem in computer science for decades because of many practical applications. Some are related to common procedures, such as searching in files and text editors, or, more recently, to more…

Data Structures and Algorithms · Computer Science 2019-07-29 Konstantinos F. Xylogiannopoulos

Large Language Models (LLMs) are revolutionizing bioinformatics, enabling advanced analysis of DNA, RNA, proteins, and single-cell data. This survey provides a systematic review of recent advancements, focusing on genomic sequence modeling,…

Computation and Language · Computer Science 2026-03-03 Zhenyu Wang , Zikang Wang , Jiyue Jiang , Pengan Chen , Xiangyu Shi , Yu Li

As AI adoption expands across human society, the problem of aligning AI models to match human preferences remains a grand challenge. Currently, the AI alignment field is deeply divided between behavioral and representational approaches,…

Computers and Society · Computer Science 2025-08-12 Ben Y. Reis , William La Cava

Aligning reads to a reference sequence is a fundamental step in numerous bioinformatics pipelines. As a consequence, the sensitivity and precision of the mapping tool, applied with certain parameters to certain data, can critically affect…

Genomics · Quantitative Biology 2016-03-17 Karel Břinda , Valentina Boeva , Gregory Kucherov